학술논문
'학술논문'
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1~10
Academic Journal
Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander JM; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert BA; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance TRM; Stevens, Servi JC; Vermeulen, Jeroen R; van Harssel, Jeske VT; Bosch, Danielle GM; van Gassen, Koen LI; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata JM; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka ELM; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna
American Journal of Human Genetics. 108(6)
Academic Journal
Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert BA; Vissers, Lisenka ELM; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; CAUSES Study; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen EH; van Gassen, Koen LI; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; SPARK Consortium; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E
Genome medicine. 13(1)
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
American Journal of Human Genetics. 102(6)
Academic Journal
Köhler, Sebastian; Vasilevsky, Nicole A; Engelstad, Mark; Foster, Erin; McMurry, Julie; Aymé, Ségolène; Baynam, Gareth; Bello, Susan M; Boerkoel, Cornelius F; Boycott, Kym M; Brudno, Michael; Buske, Orion J; Chinnery, Patrick F; Cipriani, Valentina; Connell, Laureen E; Dawkins, Hugh JS; DeMare, Laura E; Devereau, Andrew D; de Vries, Bert BA; Firth, Helen V; Freson, Kathleen; Greene, Daniel; Hamosh, Ada; Helbig, Ingo; Hum, Courtney; Jähn, Johanna A; James, Roger; Krause, Roland; Laulederkind, Stanley JF; Lochmüller, Hanns; Lyon, Gholson J; Ogishima, Soichi; Olry, Annie; Ouwehand, Willem H; Pontikos, Nikolas; Rath, Ana; Schaefer, Franz; Scott, Richard H; Segal, Michael; Sergouniotis, Panagiotis I; Sever, Richard; Smith, Cynthia L; Straub, Volker; Thompson, Rachel; Turner, Catherine; Turro, Ernest; Veltman, Marijcke WM; Vulliamy, Tom; Yu, Jing; von Ziegenweidt, Julie; Zankl, Andreas; Züchner, Stephan; Zemojtel, Tomasz; Jacobsen, Julius OB; Groza, Tudor; Smedley, Damian; Mungall, Christopher J; Haendel, Melissa; Robinson, Peter N
Nucleic Acids Research. 45(D1)
Academic Journal
Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot RF; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle GM; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie TRM; Draaisma, Jos M; Nicolai, Joost; Genomics, University of Washington Center for Mendelian; Yntema, Helger G; Lindstrom, Kristin; de Vries, Bert BA; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Study, Deciphering Developmental Disorders; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A; Behunova, Jana; Rehder, Helga; Gordon, Christopher T; Rio, Marlène; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander PA; Stevens, Servi JC; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G; Brunner, Han G; Mancini, Grazia M; Myers, Richard M; Owen, Laurie B; Lim, Ssang-Taek; Stachura, David L; Vissers, Lisenka ELM; Ahn, Eun-Young Erin
American Journal of Human Genetics. 99(3)
Academic Journal
Fregeau, Brieana; Kim, Bum Jun; Hernández-García, Andrés; Jordan, Valerie K; Cho, Megan T; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rosenfeld, Jill A; Bhoj, Elizabeth; Zackai, Elaine H; Sacharow, Stephanie; Barañano, Kristin; Bosch, Daniëlle GM; de Vries, Bert BA; Lindstrom, Kristin; Schroeder, Audrey; James, Philip; Kulch, Peggy; Lalani, Seema R; van Haelst, Mieke M; van Gassen, Koen LI; van Binsbergen, Ellen; Barkovich, A James; Scott, Daryl A; Sherr, Elliott H
American Journal of Human Genetics. 98(5)
Academic Journal
Koolen, David A; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E; Conta, Jessie H; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A; Winesett, Heather M; Chung, Wendy K; Dalton, Marguerite; Dimova, Petia S; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z; Saal, Howard M; Hehir-Kwa, Jayne Y; Willemsen, Marjolein H; Ockeloen, Charlotte W; Jongmans, Marjolijn C; Van der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S; Kant, Sarina G; Gerkes, Erica H; Firth, Helen V; Õunap, Katrin; Bird, Lynne M; Masser-Frye, Diane; Friedman, Jennifer R; Sokunbi, Modupe A; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K; McGaughran, Julie; Coe, Bradley P; Flórez, Jesús; Nadif Kasri, Nael; Brunner, Han G; Thompson, Elizabeth M; Gecz, Jozef; Romano, Corrado; Eichler, Evan E; de Vries, Bert BA
European Journal of Human Genetics. 24(5)
Academic Journal
Vulto-van Silfhout, Anneke T; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A; Hu, Hao; Bienek, Melanie; Vissers, Lisenka ELM; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M; Yntema, Helger G; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert BA; Brunner, Han G; van Bokhoven, Hans; Raymond, F Lucy; Willemsen, Michèl AAP; Chelly, Jamel; Xiong, Yue; Barkovich, A James; Kalscheuer, Vera M; Kleefstra, Tjitske; de Brouwer, Arjan PM
Human Mutation. 36(1)
Academic Journal
de Brouwer, Arjan PM; Nabuurs, Sander B; Verhaart, Ingrid EC; Oudakker, Astrid R; Hordijk, Roel; Yntema, Helger G; Hordijk-Hos, Jannet M; Voesenek, Krysta; de Vries, Bert BA; van Essen, Ton; Chen, Wei; Hu, Hao; Chelly, Jamel; den Dunnen, Johan T; Kalscheuer, Vera M; Aartsma-Rus, Annemieke M; Hamel, Ben CJ; van Bokhoven, Hans; Kleefstra, Tjitske
Academic Journal
Koolen, David A; Dupont, Juliette; de Leeuw, Nicole; Vissers, Lisenka ELM; van den Heuvel, Simone PA; Bradbury, Alyson; Steer, James; de Brouwer, Arjan PM; ten Kate, Leo P; Nillesen, Willy M; de Vries, Bert BA; Parker, Michael J
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